Variant: 12-64889553-G-A



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64889553-G-A missense_variant+splice_region_variant TBK1 1 8480 1.1792453E-4 4240 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant+splice_region_variant TBK1 ENST00000331710 c.1718G>A p.Arg573His unknown
missense_variant TBK1 ENST00000331710 c.1718G>A p.Arg573His probably
splice_region_variant TBK1 ENST00000331710 c.1718G>A p.Arg573His unknown
non_coding_transcript_exon_variant TBK1 ENST00000541805 n.312G>A NA NA
upstream_gene_variant TBK1 ENST00000545392 n.-1241G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
8.46253E-5 NA 3.62867E-5 NA NA NA NA


Carrier

Gender count:
1 Male
0 Female
0 Ambiguous
0 NA
Ethnicity count:
0 African
1 Caucasian
0 EastAsian
0 Hispanic
0 MiddleEastern
0 SouthAsian
0 NA

Public Available Gender Phenotype Ethnicity GT DP GQ FILTER
Yes M amyotrophic lateral sclerosis Caucasian HET 20 99 PASS